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CLINICAL PRESENTATION

Sturge–Weber syndrome (SWS) is a nonfamilial neurocutaneous disorder with a potentially progressive course. The syndrome consists of a nevus flammeus (port-wine stain) involving part of the face, in most of the patients all or part of the area supplied by the trigeminal nerve (V1 distribution most commonly). In all patients a venous angioma of the leptomeninges and less often, a choroidal angioma, and ipsilateral glaucoma is present. The facial and leptomeningeal angioma are usually ipsilateral, but both can be bilateral. Pial angiomatosis more frequently occurs in the occipital region, but it can be localized anywhere and can involve an entire hemisphere or even be bilateral. The extent of lesions that affect the facial skin, eyes, and central nervous system vary between patients, and in some cases only a single-organ system may be affected.1 Cases of SWS exist without the facial port-wine stain.

Associated common neurological symptoms include seizures, hemiparesis or hemiplegia, visual field deficits, headaches, stroke-like events (SLEs), and learning disabilities. The degree of disability associated with SWS varies significantly between patients and some may remain seizure free with no neurological deficits while others may present with severe intractable epilepsy, profound neurological deficits, and developmental delay.2 Migraines can also be very problematic in these children as well.3

Seizures are usually the presenting neurologic symptom. Roughly 70% of patients with epilepsy have their first seizure within the first year of life. In about 20%, the onset of seizures is between the ages of 1 and 3 years but may vary from birth to 23 years of age.4,5 Early seizures are triggered by fever in about one-third of patients, and are often long lasting, usually consisting of unilateral status epilepticus. Seizures are focal in most of the cases with frequent secondary generalization.6,7,8 Status epilepticus, occurring as prolonged clonic seizures, is reported in 50% of cases, and less commonly, infantile spasms, and myoclonic seizures.6,9 Bilateral leptomeningeal involvement is correlated with an earlier seizure onset and a poorer developmental prognosis.10

In one series of 77 patients with SWS, 39% evidenced a clustering pattern of severe seizures separated by prolonged periods (months to years) of seizure freedom.11 The clusters can be problematic and require benzodiazepines or hospitalization to treat status epilepticus. The prolonged recovery period is similarly problematic in regards to making decisions about when to proceed with epilepsy surgery.11

Hemiplegias of SWS often appear after an episode of serial seizures or unilateral status epilepticus that generally occurs during the first year of life.6 Therefore, they are acquired hemiplegias that closely resemble those observed in the hemiconvulsion–hemiplegia–epilepsy (HHE) syndrome. Temporary hemiplegia or hemiparesis that is not preceded by epileptic seizures is also observed. Some have referred to these manifestations as "SLEs" or "stroke-like events." Their timing with respect to seizures can be difficult, and therefore ...